Incidental Mutation 'IGL02094:Casp2'
ID 279525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casp2
Ensembl Gene ENSMUSG00000029863
Gene Name caspase 2
Synonyms Nedd2, Ich-1, Caspase-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.354) question?
Stock # IGL02094
Quality Score
Status
Chromosome 6
Chromosomal Location 42241942-42259442 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42257293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 414 (I414N)
Ref Sequence ENSEMBL: ENSMUSP00000031895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000156829]
AlphaFold P29594
Predicted Effect probably damaging
Transcript: ENSMUST00000031895
AA Change: I414N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863
AA Change: I414N

DomainStartEndE-ValueType
CARD 32 120 2.27e-32 SMART
CASc 191 447 3.27e-129 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203089
Predicted Effect probably benign
Transcript: ENSMUST00000156829
SMART Domains Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863

DomainStartEndE-ValueType
CARD 32 120 2.27e-32 SMART
CASc 191 341 8.07e-38 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the evolutionarily ancient and most conserved member of the cysteine proteases that plays important role in stress-induced apoptosis, DNA repair and tumor suppression. Mice lacking the encoded protein develop normally but display cell type-specific apoptotic defects. Germ cells and oocytes from such mice were found to be resistant to cell death after treatment with chemotherapeutic drugs. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal apoptosis. Apoptosis is reduced in the female germline, but is increased in sympathetic neurons during development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,324,480 (GRCm39) N658S possibly damaging Het
Adcy10 T C 1: 165,398,189 (GRCm39) Y1429H probably damaging Het
Aebp1 G A 11: 5,818,357 (GRCm39) M98I probably benign Het
Arl3 T C 19: 46,546,780 (GRCm39) D15G probably benign Het
Ceacam1 T C 7: 25,173,968 (GRCm39) D229G probably damaging Het
Cog7 G T 7: 121,562,470 (GRCm39) A234E probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a59 A T 5: 146,041,631 (GRCm39) T392S probably benign Het
Ebf2 G A 14: 67,472,689 (GRCm39) V36M possibly damaging Het
Fbxw15 A C 9: 109,387,308 (GRCm39) V229G possibly damaging Het
Got1l1 A G 8: 27,689,873 (GRCm39) V171A probably benign Het
Itgax A G 7: 127,730,645 (GRCm39) Y121C probably damaging Het
Kcng4 C A 8: 120,359,960 (GRCm39) A139S probably damaging Het
Kcnj9 G T 1: 172,153,275 (GRCm39) T283K probably damaging Het
Mgl2 T A 11: 70,027,923 (GRCm39) I377K possibly damaging Het
Myo15a T C 11: 60,401,473 (GRCm39) probably benign Het
Nod1 A T 6: 54,916,375 (GRCm39) probably null Het
Nr1h5 A T 3: 102,859,512 (GRCm39) C182* probably null Het
Nup210l G T 3: 90,087,520 (GRCm39) probably null Het
Ptbp2 G A 3: 119,546,589 (GRCm39) probably benign Het
Ptpn13 T G 5: 103,742,483 (GRCm39) F2401V probably damaging Het
Rbbp6 T C 7: 122,596,485 (GRCm39) S676P probably damaging Het
Recql4 T A 15: 76,593,717 (GRCm39) Q131L probably benign Het
Sbno2 G A 10: 79,893,479 (GRCm39) P1274L probably benign Het
Sec24c T C 14: 20,738,470 (GRCm39) V341A probably damaging Het
Smc1b A T 15: 84,982,092 (GRCm39) probably benign Het
Sptbn1 T C 11: 30,050,659 (GRCm39) H2310R probably benign Het
Tas2r109 T A 6: 132,957,202 (GRCm39) I243F possibly damaging Het
Trpc1 A C 9: 95,625,334 (GRCm39) D97E probably damaging Het
Trpm2 G A 10: 77,778,830 (GRCm39) Q379* probably null Het
Ttn A G 2: 76,649,167 (GRCm39) probably benign Het
Vmn2r74 A T 7: 85,610,669 (GRCm39) F8I probably benign Het
Zfp36 C T 7: 28,077,188 (GRCm39) S240N probably benign Het
Zfp65 A G 13: 67,856,304 (GRCm39) I325T possibly damaging Het
Other mutations in Casp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00826:Casp2 APN 6 42,246,219 (GRCm39) nonsense probably null
IGL02371:Casp2 APN 6 42,244,902 (GRCm39) missense probably benign 0.00
IGL02414:Casp2 APN 6 42,257,380 (GRCm39) missense probably damaging 1.00
IGL03298:Casp2 APN 6 42,245,924 (GRCm39) splice site probably benign
R1240:Casp2 UTSW 6 42,245,879 (GRCm39) missense probably damaging 1.00
R1424:Casp2 UTSW 6 42,253,725 (GRCm39) splice site probably benign
R1672:Casp2 UTSW 6 42,245,842 (GRCm39) missense probably damaging 1.00
R4110:Casp2 UTSW 6 42,244,828 (GRCm39) missense probably damaging 1.00
R4113:Casp2 UTSW 6 42,244,828 (GRCm39) missense probably damaging 1.00
R5062:Casp2 UTSW 6 42,246,206 (GRCm39) splice site probably benign
R5469:Casp2 UTSW 6 42,246,268 (GRCm39) missense probably benign 0.00
R5835:Casp2 UTSW 6 42,244,520 (GRCm39) missense possibly damaging 0.84
R5877:Casp2 UTSW 6 42,253,571 (GRCm39) intron probably benign
R6103:Casp2 UTSW 6 42,256,814 (GRCm39) missense probably damaging 0.99
R6667:Casp2 UTSW 6 42,256,770 (GRCm39) missense probably damaging 1.00
R6702:Casp2 UTSW 6 42,244,985 (GRCm39) missense probably benign
R6754:Casp2 UTSW 6 42,246,264 (GRCm39) missense probably damaging 1.00
R7141:Casp2 UTSW 6 42,257,329 (GRCm39) missense possibly damaging 0.68
R7255:Casp2 UTSW 6 42,245,841 (GRCm39) missense probably damaging 1.00
R7611:Casp2 UTSW 6 42,250,972 (GRCm39) missense possibly damaging 0.95
R9135:Casp2 UTSW 6 42,245,882 (GRCm39) missense probably benign 0.03
R9350:Casp2 UTSW 6 42,246,332 (GRCm39) missense probably benign 0.15
X0065:Casp2 UTSW 6 42,257,077 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16